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Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism.
Petrella R, Rabinowitz JG, Steinmann B, Hirschhorn K. Petrella R, et al. Among authors: hirschhorn k. Am J Med Genet. 1993 Aug 15;47(2):187-97. doi: 10.1002/ajmg.1320470212. Am J Med Genet. 1993. PMID: 8213905
Aside from secondary joint changes and the presence of cataracts, changes described in children with autosomal recessive Larsen syndrome were noted. Three years after evaluation, the sister gave birth to a daughter with Larsen syndrome. This occurrence raises the possibili …
Aside from secondary joint changes and the presence of cataracts, changes described in children with autosomal recessive Larsen syndrome wer …
Genetics, amniocentesis, and abortion.
Hirschhorn K. Hirschhorn K. Mt Sinai J Med. 1984 Jan-Feb;51(1):15-7. Mt Sinai J Med. 1984. PMID: 6608672
An early argument regarding the ethics of this option was formulated by Dan Callahan, director of the Hastings Institute for Ethics, Society and the Life Sciences, when he indicated the need to be careful about the term "option." A need exists to be careful about societal …
An early argument regarding the ethics of this option was formulated by Dan Callahan, director of the Hastings Institute for Ethics, Society …
Human inosine triphosphatase: catalytic properties and population studies.
Holmes SL, Turner BM, Hirschhorn K. Holmes SL, et al. Among authors: hirschhorn k. Clin Chim Acta. 1979 Oct 1;97(2-3):143-53. doi: 10.1016/0009-8981(79)90410-8. Clin Chim Acta. 1979. PMID: 487601
The range of activity was investigated in erythrocytes, peripheral leukocytes, amniotic fluid cells, skin fibroblasts, long term lymphoid lines and bone marrow fibroblasts. The mean ITPase activity was found to vary in different cell types from 4.9 to 294 units per mg prot …
The range of activity was investigated in erythrocytes, peripheral leukocytes, amniotic fluid cells, skin fibroblasts, long term lymp …
Assignment of the gene locus for human alpha-L-fucosidase to chromosome 1 by analysis of somatic cell hybrids.
Turner BM, Smith M, Turner VS, Kucherlapati RS, Ruddle FH, Hirschhorn K. Turner BM, et al. Among authors: hirschhorn k. Somatic Cell Genet. 1978 Jan;4(1):45-54. doi: 10.1007/BF01546492. Somatic Cell Genet. 1978. PMID: 628884
Fourteen hybrid clones derived from the fusion of mouse and human cultured fibroblasts and 37 hybrid clones derived from the fusion of human long-term lymphoid lines with mouse RAG cells were tested for expression of human alpha-L-fucosidase. ...
Fourteen hybrid clones derived from the fusion of mouse and human cultured fibroblasts and 37 hybrid clones derived from the fusion of human …
Cell-specific differences in membrane beta-glucosidase from normal and Gaucher cells.
Turner BM, Beratis NG, Hirschhorn K. Turner BM, et al. Among authors: hirschhorn k. Biochim Biophys Acta. 1977 Feb 9;480(2):442-9. doi: 10.1016/0005-2744(77)90036-5. Biochim Biophys Acta. 1977. PMID: 13844
The second isozyme had a pH optimum of 4.5, a Km of 0.8 mM and was stable at pH 4.0 ("acid-stable"). Cultured long-term lymphoid lines and peripheral blood leukocytes contained both isozymes while cultured skin fibroblasts contained only the "acid-stable" form in detectabl …
The second isozyme had a pH optimum of 4.5, a Km of 0.8 mM and was stable at pH 4.0 ("acid-stable"). Cultured long-term lymphoid line …
Prenatal diagnosis of 45,X/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant.
Hsu LY, Kim HJ, Hausknecht R, Hirschhorn K. Hsu LY, et al. Among authors: hirschhorn k. Clin Genet. 1976 Oct;10(4):232-8. doi: 10.1111/j.1399-0004.1976.tb00040.x. Clin Genet. 1976. PMID: 987872
They decided to continue this pregnancy. The infant was born at term and was a grossly normal male with normal penis and descended, normal-sized testes. ...
They decided to continue this pregnancy. The infant was born at term and was a grossly normal male with normal penis and descended, n …
alpha-L-Fucosidase in normal and deficient individuals.
Hirschhorn K, Beratis NG, Turner BM. Hirschhorn K, et al. Adv Exp Med Biol. 1976;68:205-23. doi: 10.1007/978-1-4684-7735-1_13. Adv Exp Med Biol. 1976. PMID: 937108
Deficiency of the enzyme alpha-L-fucosidase has been demonstrated in peripheral leukocytes, cultured skin fibroblasts and long-term lymphoid lines from two sibs with fucosidosis 2. Reliable identification of heterozygotes for this disease was accomplished by enzyme assay o …
Deficiency of the enzyme alpha-L-fucosidase has been demonstrated in peripheral leukocytes, cultured skin fibroblasts and long-term l …
Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes.
Beratis NG, Danesino C, Hirschhorn K. Beratis NG, et al. Among authors: hirschhorn k. Ann Hum Genet. 1975 May;38(4):485-93. doi: 10.1111/j.1469-1809.1975.tb00638.x. Ann Hum Genet. 1975. PMID: 1238048
The enzymic activity of arylsulphatase A and B remained stable over a period of several months. These findings indicate that long-term lymphoid lines express the genotype of the donor and maintain enzyme stability over long periods in culture. ...
The enzymic activity of arylsulphatase A and B remained stable over a period of several months. These findings indicate that long-term …
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